TAG for AHI1

Gene content

Symbol

AHI1 ( by HUGO)

Name

Abelson Helper Integration Site 1

Category

Oncogene

Alias

Abelson Helper Integration Site 1
Abelson Helper Integration Site 1 Protein Homolog
AHI-1
Jouberin
Abelson Helper Integration Site
JBTS3
ORF1
Contatins SH3 And WD40 Domains
dJ71N10.1
jouberin

Cytogenetic band

NCBI: 6q23.3 Ensembl: 6q23.3

Protein information

AHI1_HUMAN

Size: 1196 amino acids

Mass: 137115 Da

Subunit: Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1 (By similarity). Interacts with NPHP1. Interacts (via SH3 domain) with the dynamin GTPase DNM2 Sequence caution: Sequence=AAH29417.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH65712.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=CAI20201.1; Type=Erroneous gene model prediction; Sequence=CAI20387.1; Type=Erroneous gene model prediction; Sequence=CAI22523.1; Type=Erroneous gene model prediction; 1 PDB 3D structure from [IMAGE] and Proteopedia [IMAGE] for AHI1: 4ESR (3D) [IMAGE]

Tissue specificity: Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct ce

Function:

UniProtKB/Swiss-Prot Summary: AHI1_HUMAN, Q8N157 Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes (By similarity)

Similarity:

Contains 1 SH3 domain

Contains 7 WD repeats [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001452	SH3_domain	SH3	Domain
InterPro	IPR001680	WD40_repeat	WD-40 repeat	Repeat
Blocks	IPB001452	SH3 domain signature	SH3 domain signature

Gene Ontology
Type	Term	Evidence	Source	Pub
Cellular Component	adherens junction	IDA	GOA	18633336
	cell-cell junction	IDA	GOA	18633336
	centrosome	IDA	GOA	18633336
Molecular Function	protein binding	IPI	GOA	18633336

Disorder & Mutation
Source	Disease
SWISS-PROT	Joubert syndrome 3 (JBTS3) [MIM:608629]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry

AHI1 cross reference